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Condition report · Ophthalmological

Leber Congenital Amaurosis

Leber congenital amaurosis is a group of inherited retinal conditions that cause severe vision loss from birth or early childhood. Changes in the RPE65 gene can also cause a related retinal dystrophy that may begin later, and for which an approved gene therapy exists.

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The 3 conditions we analyse

Leber Congenital Amaurosis

Autosomal recessive

A group of inherited retinal dystrophies, caused by changes in genes such as CEP290, GUCY2D, CRB1, RPE65 and AIPL1, that cause severe vision loss, nystagmus and poor pupil responses in infancy.

What a diagnosis changes

Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.

Genes analysed

Also known as

amaurosis congenita of Leber; congenital absence of the rods and cones; congenital retinal blindness; Leber's congenital tapetoretinal degeneration; Leber's congenital tapetoretinal dysplasia

Includes 22 related subtypes ↓
  • Leber congenital amaurosis 1
  • Leber congenital amaurosis 10
  • Leber congenital amaurosis 11
  • Leber congenital amaurosis 12
  • Leber congenital amaurosis 13
  • Leber congenital amaurosis 14
  • Leber congenital amaurosis 15
  • Leber congenital amaurosis 16
  • Leber congenital amaurosis 17
  • Leber congenital amaurosis 18
  • Leber congenital amaurosis 19
  • Leber congenital amaurosis 2
  • Leber congenital amaurosis 3
  • Leber congenital amaurosis 4
  • Leber congenital amaurosis 5
  • Leber congenital amaurosis 6
  • Leber congenital amaurosis 7
  • Leber congenital amaurosis 8
  • Leber congenital amaurosis 9
  • Leber congenital amaurosis with early-onset deafness
  • retinal aplasia
  • retinitis pigmentosa 7
MONDO:0018998Orphanet 65MedGen 137922

RPE65-Related Recessive Retinopathy

Autosomal recessive

A retinal dystrophy caused by changes in both copies of RPE65, ranging from Leber congenital amaurosis to early-onset retinitis pigmentosa.

What a diagnosis changes

People with confirmed biallelic RPE65 variants and enough viable retinal cells may be eligible for gene therapy (voretigene neparvovec).

Genes analysed

Also known as

amaurosis congenita of Leber 2; amaurosis congenita of Leber II; amaurosis congenita of Leber, type 2; LCA2; Leber congenital amaurosis 2; Leber congenital amaurosis caused by mutation in RPE65; Leber congenital amaurosis type 2; recessive RPE65 retinopathy; retinitis pigmentosa 20; retinitis pigmentosa caused by mutation in RPE65; RP20; RPE65 Leber congenital amaurosis; RPE65 retinitis pigmentosa

Includes 2 related subtypes ↓
  • Leber congenital amaurosis 2
  • retinitis pigmentosa 20
MONDO:0100368

RPE65-Related Dominant Retinopathy

Autosomal dominant

A rarer, later-onset retinal dystrophy caused by a single dominant change in RPE65.

What a diagnosis changes

Regular eye examinations help monitor the retina and support low-vision planning.

Genes analysed

Also known as

dominant RPE65 retinopathy; retinitis pigmentosa 87 with choroidal involvement; RP87

Includes 1 related subtype ↓
  • retinitis pigmentosa 87 with choroidal involvement
MONDO:0100452

Other ophthalmological conditions

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